HsaEX0016172 @ hg19
Exon Skipping
Gene
ENSG00000100473 | COCH
Description
coagulation factor C homolog, cochlin (Limulus polyphemus) [Source:HGNC Symbol;Acc:2180]
Coordinates
chr14:31346778-31348691:+
Coord C1 exon
chr14:31346778-31346934
Coord A exon
chr14:31348017-31348150
Coord C2 exon
chr14:31348629-31348691
Length
134 bp
Sequences
Splice sites
3' ss Seq
CTGCTATTCTTGTGTTACAGGGG
3' ss Score
9.33
5' ss Seq
CTAGTAGGT
5' ss Score
4.34
Exon sequences
Seq C1 exon
CTCCCATTGCTATCACATGTTTTACCAGAGGCTTGGACATCAGGAAAGAGAAAGCAGATGTCCTCTGCCCAGGGGGCTGCCCTCTTGAGGAATTCTCTGTGTATGGGAACATAGTATATGCTTCTGTATCGAGCATATGTGGGGCTGCTGTCCACAG
Seq A exon
GGGAGTAATCAGCAACTCAGGGGGACCTGTACGAGTCTATAGCCTACCTGGTCGAGAAAACTATTCCTCAGTAGATGCCAATGGCATCCAGTCTCAAATGCTTTCTAGATGGTCTGCTTCTTTCACAGTAACTA
Seq C2 exon
AAGGCAAAAGTAGTACACAGGAGGCCACAGGACAAGCAGTGTCCACAGCACATCCACCAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000100473_MULTIEX2-1/2=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.727
Domain overlap (PFAM):
C1:
PF0381514=LCCL=PU(53.3=90.6)
A:
PF0381514=LCCL=PD(45.6=89.1)
C2:
PF0381514=LCCL=PD(2.0=20.0)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCCATTGCTATCACATGTTTTACCA
R:
CTGTTGGTGGATGTGCTGTGG
Band lengths:
219-353
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)